Rare Disease Day - Wednesday February 28th

#ShowYourRare

*Did you know that there are more than 6000 rare diseases in existence? 

*50% of rare diseases affect children? 

*1 person out of every 20 will live with a rare disease in their lifetime?

*Rare Disease day is celebrated on the last day of February each year. 

*80% of Rare Diseases have genetic origins while others are the result of infections, allergies or                                                                     environmental causes.

No one asks to have a rare disease, I know I didn't. My Crohn's isn't considered a rare disease because  more than 200,000 people in the US are diagnosed with the disease. According to Crohn's Colitis Foundation only 10,000 to 20,000 people in the US have Short Bowel Syndrome, there is no known cure but can effectively be treated. People suffering from one or more of the over 6000 Rare Diseases can have symptoms that vary by disease and by patient. With me the issues and treatments that work with my SBS vary greatly from others that I know. Me and my 79cm of small bowel are able to function without the assistance of TPN while still receiving IV Hydration and fluid supplementation. Others I know with about the same amount of small bowel need daily TPN or nothing at all to help absorb the nutrients we need to survive. 

A Rare Disease can be hard to diagnose and treat due the lack of experienced Physicians when they come across it. Delaying diagnosis can delay treatment which will can affect the patients quality of life. Once you have a diagnosis, finding the right care team can be hard due to physical location of patient to medical facilities, cost involved in treatment, family or monetary issues or a multitude of other reasons. 

Rare Disease day is a day to raise awareness of how the diseases impact the daily lives of those living with them. Raising awareness of the general public and more importantly, researchers, medical and health professionals reinforces the need to research cures to the many diseases. There are still many diseases that have no cure or medicine to help relieve the symptoms. Several of my co-workers and acquaintances are going to their state Capitols to meet with legislators to advocate for the cause. This is not just a day for awareness in the US but around the world as well. When you have doctors and researchers sharing knowledge and information, hopefully more cures or solutions can be found to cure or treat the symptoms of the may rare diseases. 

On this Rare Disease Day #ShowYourRare by posting yours or your loved one story and picture online at https://www.rarediseaseday.org/tell-your-story. change your Facebook or Twitter profiles to show you care. In a perfect world, the number of people with rare and incurable diseases would be diminishing but sadly that is not the case. For all of of those living, loving and laughing with a Rare Disease show you care today by #ShowYourRare.

Michelle

Statistics from www.rarediseaseday.org

Disabilities....some you can't see...

My sons have been involved with the local Special Olympics Ski team for the past dozen or so years.  Alex and his partner started skiing together when they were in 5th grade and stayed partners until they graduated from high school. It took Alex a year or so before he asked me what his partner's handicap was, he knew he was helping "handicapped" people but we never told him how each athlete was different from him. Some disabilities are more noticeable than others and it made me glad that Alex saw the other athletes as people and not for their disabilities. Daniel & Jake have also become Special Olympic Partners and eagerly look forward to Sunday night ski team training as well as the State Winter games in Cleveland. The whole family has become friends with athletes, parents and other partners that we see each year. The team is a huge family that cheers each other on and celebrates their accomplishments. 

No one wakes up one day and says "I want to be disabled today" it just happens, either you are born with it or an illness or accident changes your life forever. Some disabilities are noticeable while others are invisible. If you would have asked me 10 years ago what my life would look like right now, I would never in a million years tell you that I would disabled. When my health blew up, I resisted the idea of filing for disability until I tried to return to work and found actually didn't have the same body & stamina I had a few months prior. I look okay on the outside but the inside is completely different. Some days I feel like my old self but other days I am completely exhausted, dehydrated and need downtime to get through the day. Luckily I have a great part-time job with an understanding boss who allows me to adjust my hours for late mornings or mid-afternoon naps and a very understanding husband who doesn't complain if dinner isn't made or the house isn't immaculately clean. The hardest part about being declared disabled was drastic change in my life. Once my body healed enough to where I could start helping out at the kids schools, running errands and keeping up the house, I found that I really didn't fit in anywhere. All my friends from work were still working there and I was out of the loop, my other friends were working and I didn't know how to find new friends. I didn't know how to explain why I was no longer working and why I was disabled so people would understand that although I looked great on the outside, my body didn't work normally anymore.  It took a while but I found my place and and sense of self again. 

When you see someone out that has a handicap sticker, medical backpack or disability that sets them apart, remember that you can't always see their disability. It hurts when you are judged by others that have no idea what your life is like. When we became involved with Special Olympics I never realized how much it would teach my boys as well as how much the athletes have taught us. They show up  ready to ski with a smile on their face, kind works and an enjoyment for life. Living, Loving and Laughing comes naturally to them and they are an inspiration to everyone around them. 

Love to all,

Michelle